Sachiko Miyamoto
Hamamatsu, Japan
Last Updated: 09/26/2026
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Found 26 publications
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.
Journal: Human genome variation
Published: May 13, 2026
Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.
Journal: Brain & development
Published: April 01, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.
Journal: Journal of human genetics
Published: February 18, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.
Journal: Annals of human genetics
Published: December 08, 2025
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2.
Journal: European journal of endocrinology
Published: October 27, 2025
Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.
Journal: Biochimica et biophysica acta. Molecular cell research
Published: July 28, 2025
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.
Identification of 5' untranslated region variants in genes involved in neurodevelopmental disorders.
Journal: Journal of human genetics
Published: June 21, 2025
Genetic analysis of leukodystrophies in children: towards improved diagnostic yield.
Journal: Brain & development
Published: March 19, 2025
Compound heterozygous ZNF335 variants in a patient with microcephaly, refractory epilepsy, and severe developmental delay: A case report and literature review.
Journal: Congenital anomalies
Published: February 03, 2025
Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.
Journal: Molecular genetics & genomic medicine
Published: July 01, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Journal: Scientific reports
Published: June 12, 2024
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
Journal: Journal of human genetics
Published: August 09, 2023
Last Updated: 09/26/2026